Other diseases Flashcards

1
Q

What is vitiligo?

A

an autoimmune disease with loss of melanocytes

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2
Q

What is albinism?

A

a genetic partial loss of pigment production

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3
Q

What are porphyrias?

A

these are genetic or acquired rare diseases caused by errors of haem biosynthesis which can cause porphyrins to be produced or porphyrinogen build-up (neurotoxic)

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4
Q

What is acute intermittent porphyria?

A
  • this is an acute neurotoxic reaction which is common and can be caused by drugs
  • there is impaired function of porphobilinogen deaminase
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5
Q

What is porphyria cutanea tarda?

A

-this is the most common porphyria
type 1 is excess iron ie haemochromatosis
-this presents as blisters, fragility and excess hair

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6
Q

What is erythropoietic protoporphyria?

A
  • pain to natural light
  • prickly burning
  • early childhood presentation
  • caused by build-up of protoporphyrin 9 due to lack of ferrochelatase
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7
Q

What do acute porphyria attacks look like?

A
  • GI symptoms
  • neuropsychiatric problems
  • CV problems
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8
Q

What causes chickenpox and shingles?

A
  • chickenpox is caused by Varicella

- shingles is caused by herpes zoster

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9
Q

What is the progression of chicken pox?

A

starts as macule then progresses to papule

these then become vesicles with clear fluid and then pus

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10
Q

What are the complications of chicken pox?

A
  • secondary bacterial infection
  • pneumonitis
  • haemorrhagic lesions
  • scarring
  • encephalitis
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11
Q

What are the symptoms of shingles?

A
  • tingling or pain
  • then erythema
  • then vesicles
  • then crusts
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12
Q

What distribution is shingles seen in?

A

dermatomal eg opthalmic, maxillary and mandibular

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13
Q

What is Ramsay-Hunt syndrome?

A

this is facial palsy in the seventh facial nerve and irritation of the eight nerve leading to deafness, vertigo and tinnitus

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14
Q

What do each of the types of herpes cause?

A
  • HSV Type 1 is mainly oral lesions and half cases of genital
  • HSV Type 2 is rare cause of oral and is half the cases of genital
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15
Q

What is herpes treated with?

A

Aciclovir and is confirmed by lab with a swab

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16
Q

What is erythema multiforme?

A

target lesions with erythema by drug reactions or some infections

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17
Q

What is molluscum contagiosum?

A

fleshy, firm and umbilicate nodules that are shiny

these are common in kids or can be sexually transmitted

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18
Q

What are warts caused by?

A

HPV

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19
Q

What is herpangina?

A

blistering rash on back of mouth caused by enterovirus which can be confirmed by swab or stool PCR

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20
Q

What is erythema infectiosum?

A

this is slapped cheek disease and is caused by parvovirus B19 which can come with acute arthritis in adults esp in wrists

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21
Q

What are the complications of erythema infectiosum?

A
  • spontaneous abortions
  • aplastic crises
  • chronic anaemia
22
Q

How is erythema infectiosum confirmed?

A

IgM antibody with antibody testing

23
Q

What is Orf?

A

a virus of sheep that is a firm fleshy nodules on a farmer’s hand

24
Q

What is seen in syphilis and what is it treated with?

A

primary chancre and then a secondary infection or red rash on palms and soles
treated with penicillin

25
Q

What is Lyme disease caused by and what can it go on to cause?

A
  • caused by borrielia burgdoferi

- can go on to cause heart block, nerve palsies or arthritis

26
Q

How does Zika present?

A

mild fever, rash or headaches

27
Q

What is the first sign of tuberous sclerosis?

A

ash-leaf macule seen with a Wood’s lamp

28
Q

What are the symptoms of tuberous sclerosis?

A
  • periungual fibromas on nail plate and ridges
  • facial angiofibromas
  • brain tumours
  • hamartomas
  • bone cysts
  • Shagreen patches (oval, skin coloured lumps)
29
Q

What are the genetic causes behind tuberous sclerosis?

A
  • TSC1 and TSC2 genes which code for tuberin and hamartin

- it is high penetrance and low frequency in the population

30
Q

What is the difference between common and Mendelian disorders?

A
common= low penetrance but high frequency 
Mendelian= high penetrance but low frequency
31
Q

What is epidermolysis bullosa?

A

this is a group of skin fragility conditions

32
Q

What are the main types of epidermolysis bullosa?

A
  • simplex
  • junctional
  • dystrophic
    (rare is EB acquisita which is autoimmune)
33
Q

What is haploinsufficiency?

A

one copy of the gene is working so there is reduced protein production

34
Q

What is dominant negative?

A

expression of abnormal protein interferes with normal protein

35
Q

What is neurofibromatosis type 1?

A
  • this is a condition of neurofibromas (can be pushed down through dermis) and cafe au lait macules
  • plexiform neuromas are common, axillary or inguinal freckling or optic glioma
  • protein involved is neurofibromine
36
Q

What are the main types of immunologically mediated drug reactions?

A
  • type 1 anaphylactic: urticaria
  • type 2 cytotoxic: pemphigus or pemphigoid
  • type 3 immune complex-mediated reactions: purport or rash
  • type 4 cell-mediated delayed hypersensitivity: erythema or rash
37
Q

What is the most common presentation of a drug eruption?

A
  • maculopapular rash that is sometimes urticarial
  • itch
  • pigmentation
  • pain
  • photosensitivity
38
Q

What is the process of most drug eruptions?

A
  • most are exanthematous
  • type 4 cell-mediated delayed
  • mild is itch and fever
  • more severe is SOB/wheeze and facial involvement
39
Q

What drugs can cause bullies pemphigoid?

A

ACEI, penicillin or furosemide

40
Q

What drugs are associated with fixed eruptions?

A

tetracycline, paracetamol and NSAIDs

this involves well-rounded plaques

41
Q

How do you test for the different types of drug eruptions?

A
  • patch test for type 4

- prick test for type 1

42
Q

What are the most common drugs to cause a reaction?

A
  • doxycycline, amiodarone, quinine and chlorpromazine
  • thiazide causes UVA and UVB sensitivity
  • NSAIDs cause pseudoporphyria
43
Q

What can itch be mediated by?

A
  • chemical mediators in the skin eg histamine
  • nerve transmission eg unmyelinated C fibres
  • CNS mediators eg opiates
44
Q

What are the causes of itch?

A
  • Pruritoceptive: skin eg inflammation or dryness
  • Neuropathic: damage to central or peripheral nerves eg shingles
  • Neurogenic: CNS receptors or systemic disease eg kidney disease or primary biliary cirrhosis
  • Psychogenic: psychological causes with no CNS damage eg delusions of insects
45
Q

What is the management of itch?

A
  • treat if pruritoceptive

- give anti-itch such as sedative antihistamine, emollient, antidepressant or phototherapy

46
Q

What role to mast cells play in itch?

A
  • mast cells degranulate in response to stimuli
  • this then causes release of preformed mediators eg proteases
  • or causes synthesis of newly formed mediators eg prostaglandin D2 or leukotrienes
47
Q

What is the difference in time of onset in IgE vs not?

A

IgE is within 2 hours

Non-IgE is longer

48
Q

What is urticaria?

A

well-defined, erythema or whiteness, raised and smooth

49
Q

What is the treatment for allergy?

A

epipen and antihistamines and steroids

50
Q

What are the names of the other random tumours?

A
  • dermatofibroma
  • angiosarcoma
  • merkel cell carcinoma
  • sweat gland carcinoma
  • cutaneous T or B cell lymphoma
51
Q

What is toxic epidermal necrolysis?

A

severe, acute eruption secondary to a drug